Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
124423c.4371G>Cp.Leu1457LeuDIIIS6SynonymousNDADNFLE Familial(Paternal,ADNFLE)Sone D.2012


Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
116c.4371G>Cp.Leu1457Leu(DIIIS6)MissenseADNFLEADNFLE(Paternal) Sone D.2012